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Familial hypercholesterolemia related gene and its detection kit and application

A technology of hypercholesterolemia and detection kits, which is applied in the determination/testing of microorganisms, biochemical equipment and methods, DNA/RNA fragments, etc., and can solve the problems of FH patients who cannot explain the pathogenic genes

Active Publication Date: 2022-07-22
BEIJING CHAOYANG HOSPITAL CAPITAL MEDICAL UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, there are still some FH patients who cannot be explained by known pathogenic genes, suggesting that there are undiscovered pathogenic genes. It is necessary to further explore and improve the data of FH pathogenic genes to improve the accuracy of early detection of FH

Method used

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  • Familial hypercholesterolemia related gene and its detection kit and application
  • Familial hypercholesterolemia related gene and its detection kit and application
  • Familial hypercholesterolemia related gene and its detection kit and application

Examples

Experimental program
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Effect test

Embodiment 1

[0024] Example 1. LDLR gene c.817+1G>C heterozygous mutant gene, kit for in vitro detection of LDLR gene c.817+1G>C heterozygous mutant gene

[0025] This example provides the LDLR gene c.817+1G>C heterozygous mutant gene, the nucleotide sequence of which is shown in SEQ ID NO: 1;

[0026] SEQ ID NO: lttggctgcgt taatg g / c tgag cgctggccat.

[0027] This example also provides primers for detecting the LDLR gene c.817+1G>C heterozygous mutant gene:

[0028] Forward primer: 5'-GCCTCTCAAGCAGTTGGAACCAC-3' (SEQ ID NO: 2);

[0029] Reverse primer: 5'-TCACTTGCCCACAGACGCACA-3' (SEQ ID NO:3).

[0030] The embodiment of the present invention provides a kit for detecting LDLR gene c.817+1G>C heterozygous mutant gene in vitro, the kit includes: 1) amplified LDLR gene c.817+1G>C heterozygous mutant gene 2) PCR amplification enzyme; 3) PCR buffer, divalent cation or monovalent cation, hybridization solution. Specifically, the components of the kit for detecting the LDLR gene c.817+1G>C he...

Embodiment 2

[0033] Embodiment 2. In vitro detection method for the presence of FH-related genes in the sample to be tested

[0034] An embodiment of the present invention provides a method for detecting whether a gene related to familial hypercholesterolemia exists in a sample to be tested in vitro, the method comprising the following steps:

[0035] 1. Extract the DNA of the sample to be tested, and carry out PCR amplification for the c.817+1G>C site of the LDLR gene; wherein, the sample to be tested is the blood, hair, saliva, hair or live blood of the individual to be tested. organize;

[0036]The DNA of the sample can be extracted using any known well-established technique. In this example, the DNA extraction of the sample to be tested uses the magnetic bead method whole blood genomic DNA extraction kit (Bestino) to extract the DNA of the sample: add 200 μl of sample (serum / whole blood) to the 1st and 7th columns of the 96 deep-well plate ), 10 μl proteinase K, pipette to mix evenly...

experiment example 1

[0048] Experimental example 1. Association between familial hypercholesterolemia and LDLR gene c.817+1G>C heterozygous mutation

[0049] 1. Subject information, as shown in Table 4 below

[0050] Table 4

[0051]

[0052] The LDLR gene of the subject is detected by using the detection kit of Example 1 and the detection method of the kit of Example 2 of the present invention.

[0053] 2. Description of test results

[0054] Test results: The subject carries a highly suspected pathogenic mutation of LDLR gene c.817+1G>C heterozygous variant of familial hypercholesterolemia, which supports the diagnosis of clinical familial hypercholesterolemia.

[0055] Use the detection reagent of the embodiment of the present invention 1 and the detection method of embodiment 2 to detect that the subject carries the LDLR variant gene, as shown in the following table 6 for details:

[0056] Table 6

[0057]

[0058] Note: AD is autosomal dominant inheritance, AR is autosomal recessive...

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Abstract

The invention discloses "a gene related to familial hypercholesterolemia and a detection kit and application thereof", which belongs to the development technology of diagnostic reagents. The c.817+1G>C heterozygous mutation is located at the 16th base position of the nucleotide sequence shown in SEQ ID NO: 1; this site can be used as a biomarker for clinical auxiliary diagnosis of familial hypercholesterolemia ; By detecting whether the subject carries the above-mentioned mutation, the carrier of the mutation can be detected, and the subject can be provided with prenatal and postnatal care guidance and genetic counseling to reduce the number of births of children; it can provide possible drug treatment for human beings to overcome familial hypercholesterolemia target, and promote the development of innovative drugs.

Description

technical field [0001] The invention relates to the development of diagnostic reagents, in particular to a familial hypercholesterolemia-related gene and a detection kit and application thereof. Background technique [0002] Familial hypercholesterolemia (FH), also known as familial hyperbetalipoproteinemia, is clinically characterized by hypercholesterolemia, characteristic xanthoma, and a family history of premature cardiovascular disease. FH is the most common hereditary hyperlipidemia in childhood and one of the most serious lipid metabolic diseases. It can lead to various life-threatening cardiovascular complications and is an important risk factor for coronary artery disease. . The most characteristic clinical manifestations of the disease are increased blood LDL-C levels, xanthomas, corneal arches, and premature coronary heart disease. The clinical manifestations of homozygotes are much more severe than those of heterozygotes. The clinical presentation of patients ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/11C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 陈牧雷高元丰杨新春王欣董莹杨晓艳曹晔萱付源史琳影张媛梁庆渊赵娜娜朱晓凤赖开生刘昕超侯青刘哲
Owner BEIJING CHAOYANG HOSPITAL CAPITAL MEDICAL UNIV
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